{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T02:27:57Z","timestamp":1785810477547,"version":"3.56.0"},"reference-count":41,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2021,3,24]],"date-time":"2021-03-24T00:00:00Z","timestamp":1616544000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"DEBRA Southern Tyrol","award":["1"],"award-info":[{"award-number":["1"]}]},{"name":"DERBA Austria","award":["not applicable"],"award-info":[{"award-number":["not applicable"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Intermediate junctional epidermolysis bullosa caused by mutations in the COL17A1 gene is characterized by the frequent development of blisters and erosions on the skin and mucous membranes. The rarity of the disease and the heterogeneity of the underlying mutations renders therapy developments challenging. However, the high number of short in-frame exons facilitates the use of antisense oligonucleotides (AON) to restore collagen 17 (C17) expression by inducing exon skipping. In a personalized approach, we designed and tested three AONs in combination with a cationic liposomal carrier for their ability to induce skipping of COL17A1 exon 7 in 2D culture and in 3D skin equivalents. We show that AON-induced exon skipping excludes the targeted exon from pre-mRNA processing, which restores the reading frame, leading to the expression of a slightly truncated protein. Furthermore, the expression and correct deposition of C17 at the dermal\u2013epidermal junction indicates its functionality. Thus, we assume AON-mediated exon skipping to be a promising tool for the treatment of junctional epidermolysis bullosa, particularly applicable in a personalized manner for rare genotypes.<\/jats:p>","DOI":"10.3390\/ijms22073326","type":"journal-article","created":{"date-parts":[[2021,3,24]],"date-time":"2021-03-24T15:42:19Z","timestamp":1616600539000},"page":"3326","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Personalized Development of Antisense Oligonucleotides for Exon Skipping Restores Type XVII Collagen Expression in Junctional Epidermolysis Bullosa"],"prefix":"10.3390","volume":"22","author":[{"given":"Michael","family":"Ablinger","sequence":"first","affiliation":[{"name":"Research Program for Molecular Therapy of Genodermatoses, EB House Austria, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Lettner","sequence":"additional","affiliation":[{"name":"Research Program for Molecular Therapy of Genodermatoses, EB House Austria, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Friedl","sequence":"additional","affiliation":[{"name":"Research Program for Molecular Therapy of Genodermatoses, EB House Austria, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah","family":"Potocki","sequence":"additional","affiliation":[{"name":"Research Program for Molecular Therapy of Genodermatoses, EB House Austria, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theresa","family":"Palmetzhofer","sequence":"additional","affiliation":[{"name":"Research Program for Molecular Therapy of Genodermatoses, EB House Austria, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6285-1789","authenticated-orcid":false,"given":"Ulrich","family":"Koller","sequence":"additional","affiliation":[{"name":"Research Program for Molecular Therapy of Genodermatoses, EB House Austria, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8305-6135","authenticated-orcid":false,"given":"Julia","family":"Illmer","sequence":"additional","affiliation":[{"name":"Research Program for Molecular Therapy of Genodermatoses, EB House Austria, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernadette","family":"Liemberger","sequence":"additional","affiliation":[{"name":"Research Program for Molecular Therapy of Genodermatoses, EB House Austria, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Hainzl","sequence":"additional","affiliation":[{"name":"Research Program for Molecular Therapy of Genodermatoses, EB House Austria, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfred","family":"Klausegger","sequence":"additional","affiliation":[{"name":"Research Program for Molecular Therapy of Genodermatoses, EB House Austria, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Reisenberger","sequence":"additional","affiliation":[{"name":"Research Program for Molecular Therapy of Genodermatoses, EB House Austria, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria"},{"name":"Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5303-9310","authenticated-orcid":false,"given":"Jo","family":"Lambert","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Ghent University Hospital, 9000 Ghent, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mireille","family":"Van Gele","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Ghent University Hospital, 9000 Ghent, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eline","family":"Desmet","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Ghent University Hospital, 9000 Ghent, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Els","family":"Van Maelsaeke","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Ghent University Hospital, 9000 Ghent, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Wimmer","sequence":"additional","affiliation":[{"name":"Research Program for Molecular Therapy of Genodermatoses, EB House Austria, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0590-3877","authenticated-orcid":false,"given":"Roland","family":"Zauner","sequence":"additional","affiliation":[{"name":"Research Program for Molecular Therapy of Genodermatoses, EB House Austria, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johann W.","family":"Bauer","sequence":"additional","affiliation":[{"name":"Research Program for Molecular Therapy of Genodermatoses, EB House Austria, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria"},{"name":"Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8705-3890","authenticated-orcid":false,"given":"Verena","family":"Wally","sequence":"additional","affiliation":[{"name":"Research Program for Molecular Therapy of Genodermatoses, EB House Austria, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,3,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1111\/bjd.18921","article-title":"Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin 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